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首页> 外文期刊>British journal of ophthalmology >Variability in the ocular phenotype in mucopolysaccharidosis
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Variability in the ocular phenotype in mucopolysaccharidosis

机译：粘性多型型病症中眼表型的变异性

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摘要

Mucopolysaccharidoses (MPSs)are a heterogeneous group of lysosomal storage disorders. Ocular complications (such as corneal clouding, retinopathy and optic neuropathy) are common. Notably, there is a paucity of data on the effect of genotype and systemic treatments (enzyme replacement therapy or haematopoietic stem cell transplantation) on the ocular phenotype in MPS. We prospectively studied the ocular features of patients with MPSI (Hurler/Hurler-Scheie/Scheie), MPSIV (Morquio) and MPSVI (Maroteaux-Lamy), to evaluate the effect of different therapeutic interventions and to correlate the findings with genetic and biomarker data.Prospective observational cohort study. Study participants underwent detailed ocular examination including visual acuity; assessment of corneal clouding (Iris camera Corneal Opacification Measure score and Pentacam densitometry) and retinal and optic nerve imaging (optical coherence tomography and wide-field fundus imaging). Data on genotype, biomarkers and delivered therapies (type and length of treatment) were also collected for each patient where available.Overall, 21 patients withMPSI, 4 patients withMPSIV and 3 patients withMPSVI were recruited. Corneal clouding scores were higher in MPSI compared with MPSIV and MPSVI. Retinopathy was evident in patients withMPSI only. Association was observed between corneal clouding and biomarkers in MPSI, MPSIV and MPSVI. However, no clear association was seen between genotype or treatment type and ocular phenotype.The ocular phenotype in MPS is variable, with corneal clouding occurring in MPSI, MPSIV and MPSVI, and retinopathy in MPSI only. There was an association between corneal clouding and efficacy of systemic treatment as measured by biomarkers.
机译：粘附鲫（MPS）是一种异质溶酶体储存障碍。眼部并发症（如角膜覆盖，视网膜病变和视神经病变）是常见的。值得注意的是，存在关于基因型和全身治疗（酶置换疗法或呕血干细胞移植）对MPS中眼表型的影响的数据。我们预期研究了MPSI（潮风/潮汐）和MPSVI（Maroteaux-Lamy），MPSIV（Morquio）和MPSVI（Maroteaux-Lamy）的患者的眼部特征，以评估不同治疗干预的效果并与遗传和生物标志物数据相关联。普遍观察队列研究。研究参与者接受了详细的眼科检查，包括视力;评估角膜覆盖（虹膜相机角膜透明度测量评分和戊酸致密度）和视网膜和视神经成像（光学相干断层扫描和宽场眼底成像）。还收集了对基因型，生物标志物和递送的疗法（类型和治疗的类型和长度），每位患者都会收集，其中21例WPSI，4例患者，4例患有MPSVI和3例WPSVI患者。与MPSIV和MPSVI相比，MPSI的角膜覆盖分数较高。只有患者的患者，视网膜病变显而易见。在MPSI，MPSIV和MPSVI中的角膜覆盖和生物标志物之间观察到关联。然而，基因型或治疗型和眼表型之间没有看到明确的关联。MPS中的眼部表型是可变的，在MPSI，MPSIV和MPSVI中发生角膜覆盖，仅在MPSI中进行视网膜病变。通过生物标志物测量的角膜覆盖和系统治疗的功效之间存在关联。

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  • 来源
    《British journal of ophthalmology》 |2019年第4期|共7页
  • 作者

    Krishanthy Sornalingam; Ahmed Javed; Tariq Aslam; Panagiotis Sergouniotis; Simon Jones; Arunabha Ghosh; Jane Ashworth;

  • 作者单位

    Manchester Academic Health Science Centre Manchester Royal Eye Hospital Manchester UK;

    Manchester Academic Health Science Centre Manchester Royal Eye Hospital Manchester UK;

    Manchester Academic Health Science Centre Manchester Royal Eye Hospital Manchester UK;

    Manchester Academic Health Science Centre Manchester Royal Eye Hospital Manchester UK;

    Willink Unit ?Manchester Centre for Genomic Medicine St Mary’s Hospital Manchester UK;

    Willink Unit ?Manchester Centre for Genomic Medicine St Mary’s Hospital Manchester UK;

    Manchester Academic Health Science Centre Manchester Royal Eye Hospital Manchester UK;

  • 收录信息
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 眼科学;
  • 关键词

    Cornea; genetics; imaging; vision; retina;

    机译：角膜;遗传学;成像;视觉;视网膜;
  • 入库时间 2022-08-19 23:08:21

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